Asian Biomedicine最新文献

{"title":"The burden and control of congenital syphilis: a need for a comprehensive strategy.","authors":"","doi":"10.2478/abm-2023-0037","DOIUrl":"https://doi.org/10.2478/abm-2023-0037","url":null,"abstract":"Syphilis is caused by the spirochete bacterium Treponema pallidum. If inadequately treated during pregnancy, the spirochete can lead to congenital syphilis (CS), which can give rise to subsequent severe sequelae or fetal, neonatal, or infant death [1]. The burden of CS varies. Recent estimates suggest that CS has decreased worldwide between 2012 and 2016 [2]. However, in some countries such as the United States, reported cases of CS have increased since 2012 [2, 3]. CS is acquired through transplacental transmission of spirochetes. Pregnant mothers with untreated primary or secondary syphilis are at the highest risk of transmitting syphilis to the fetus during pregnancy. Vertical transmission of spirochetes to offspring commonly occurs from mothers who are inadequately treated or not treated at all [4]. Since 2007, the World Health Organization has advocated the global elimination of mother-to-child transmission of T. pallidum aiming at controlling CS, which can cause significant severe sequelae and burden to individuals and the society [5]. Manifestations of early CS are varied, and diagnosis in newborn infants is difficult [1]. It is therefore important to recognize CS in infants and young children with unexplained growth problems and biochemical and hematological abnormalities [6]. All infants born to mothers who have reactive nontreponemal and treponemal tests for syphilis during pregnancy, as well as infants and children with clinical findings compatible with CS, should be initially evaluated. These can be done using existing screening tests such as Venereal Disease Research Laboratory (VDRL) test and rapid plasma reagin titer [6]. Direct fluorescent antibody staining, darkfield microscopy, and/or polymerase chain reaction (PCR) of nasal discharge and/or swabs of skin lesions should be performed if available. A diagnosis of CS may be established by the demonstration of serologic reactions typical of syphilis in relation to mother’s serology, the detection of T. pallidum by darkfield microscopy, or PCR of infected body fluids or lesions; the demonstration of T. pallidum is achieved by special stains or histopathologic examination [6–8]. Kulsirichawaroj and Lumbiganon [9] report, in a large study in this volume, that the incidence of CS in a university hospital is high. Factors associated with CS include inadequate screening and treatment of maternal syphilis and preterm birth. They advocate a systematic approach to improvement of antenatal care. This would require efforts toward evidencebased, interprofessional strategies. A collaborative perinatal/ neonatal preventive approach to the care of pregnant women may reduce the current trends of CS in countries worldwide. Strategies prioritizing early identification and treatment of at-risk neonates are necessary to reduce– and eliminate – the devastating long-term consequences of the conditions in vulnerable populations.","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"17 1","pages":"1-2"},"PeriodicalIF":0.6,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9998924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors affecting the shear wave elastic quantitative measurement of penile tissue in rats.","authors":"Wan-Ting Rao,&nbsp;Jing-Dong Tang,&nbsp;Jin-Fang Xing","doi":"10.2478/abm-2023-0040","DOIUrl":"https://doi.org/10.2478/abm-2023-0040","url":null,"abstract":"<p><strong>Background: </strong>As a new ultrasound technology, 2-dimensional shear wave elastography (2D-SWE) can evaluate the elastic characteristics of penile tissue. However, no studies have reported the main factors affecting the shear wave elastic quantitative measurement (SWQ) in penile tissue.</p><p><strong>Objectives: </strong>To analyze the main factors affecting the SWQ reflecting the elastic characteristics of penile tissue by 2D-SWE.</p><p><strong>Methods: </strong>Twenty healthy male Sprague-Dawley rats (5-60 weeks old) were selected for this study. We performed the 2D-SWE examination on the penis using the Aixplorer ultrasound system, with SWQ as the measurement index. We performed penile immunohistochemistry analysis with the positive area proportion (PAP) of alpha-smooth muscle actin (PAP_S) and type III collagen fiber (PAP_C) as the outcomes. Then, we conducted multiple linear regression analysis to explore the correlation of SWQ with PAP_S and PAP_C and established the regression equation.</p><p><strong>Results: </strong>The multiple linear regression analysis showed that the linear regression equation (SWQ = 10.376 - 0.05 PAP_S - 0.07 PAP_C) was statistically significant (<i>F</i> = 21.153, <i>P</i> < 0.001). The content of smooth muscle cells (SMCs) and collagen fibers was negatively correlated with SWQ, affecting 42.6% of the total variation in SWQ (<i>R</i>² = 0.426).</p><p><strong>Conclusions: </strong>SMCs and collagen fibers are the main factors affecting the SWQ value of penile tissue and the primary tissue components determining the SWQ when using 2D-SWE to quantitatively evaluate the elastic characteristics of penile tissue.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"17 1","pages":"22-29"},"PeriodicalIF":0.6,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405328/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9998922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The contemporary immunoassays for HIV diagnosis: a concise overview.","authors":"Abdullah,&nbsp;Misbahud Din,&nbsp;Abdul Waris,&nbsp;Muddasir Khan,&nbsp;Sajjad Ali,&nbsp;Riaz Muhammad,&nbsp;Muhammad Salman","doi":"10.2478/abm-2023-0038","DOIUrl":"https://doi.org/10.2478/abm-2023-0038","url":null,"abstract":"Abstract Recent advances in human immunodeficiency virus (HIV) diagnostics have improved the management of disease progression significantly, which have also boosted the efficacy of antiviral therapies. The detection of HIV at the earliest is very important. A highly recognized and effective virological biomarker for acute HIV infections is p24 antigen. This brief overview is based on advances of HIV diagnosis while focusing on the latest HIV testing technologies including HIV-specific antigens detecting assays of both anti-HIV antibodies and p24 antigen. In addition to other emerging molecular diagnostics for acute HIV infection, the utilization of p24 antigen has been summarized. Moreover, it has been explained how these immunoassays have reduced the window period for detection of HIV in the acute stage of infection.","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"17 1","pages":"3-12"},"PeriodicalIF":0.6,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405330/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9998925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Accuracy of predictive equations for resting energy expenditure estimation in mechanically ventilated Thai patients.","authors":"Napplika Kongpolprom","doi":"10.2478/abm-2023-0041","DOIUrl":"https://doi.org/10.2478/abm-2023-0041","url":null,"abstract":"<p><strong>Background: </strong>Indirect calorimetry (IC) is the most precise approach for estimating calorie demand in critically ill patients. Despite this, owing to unaffordable devices, it is rarely used in practice. Predictive equations are the alternatives.</p><p><strong>Objectives: </strong>To assess the accuracy of 14 predictive resting energy expenditure(REE) equations in ventilated Thai patients.</p><p><strong>Methods: </strong>We compared the accuracy and agreement of 14 equations. The equations included the American College of Chest Physicians(ACCP) equation, Harris-Benedict equation(HBE), 1.2×HBE, 1.5×HBE, Mifflin-St. Jeor(MSJ), Ireton-Jones 1992 and 2002, Penn State 2003(HBE and MSJ) and 2010, Swinamer 1990, Faisy, Brandi 1999, and 25 kcal/kg equation. An equation was ascertained as accurate if the calculated values fell within ±10% of the measured REEs. Spearman correlation coefficient, Bland-Altman method, and intraclass correlation coefficient were used to analysis.</p><p><strong>Results: </strong>We obtained data from 24 ventilated patients undergoing REE measurement by IC. Fifty percent of them were male with a median age of 64.5 years, a median height of 160 cm, and a median body mass index of 22.95 kg/m². The predictive precision of all equations was poor, with largely different accuracies from 6.7% to 48.1%. The most reliable equation was Penn State 2010. The ACCP, HBE, MSJ, and Penn State 2003(HBE) tended to underestimate calorie need. Contrastingly, the other equations tended to overestimate REEs. Despite a moderate degree of correlations, the Bland-Altman plots demonstrated clinically unacceptable discrepancies between measured REE and REE calculated by each equation.</p><p><strong>Conclusions: </strong>In ventilated Thai patients, there were no precise equations for determining REE.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"17 1","pages":"30-38"},"PeriodicalIF":0.6,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9956832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of diphenhydramine intoxication showing prolonged false positive tricyclic antidepressant in the urine assay.","authors":"Dongsun Kim,&nbsp;Hyun Young Shin,&nbsp;Bon D Ku","doi":"10.2478/abm-2023-0042","DOIUrl":"https://doi.org/10.2478/abm-2023-0042","url":null,"abstract":"<p><strong>Background: </strong>The urine immunochromatographic assay is a useful screening tool for patients suspected of acute drug intoxication in emergency conditions. Diphenhydramine intoxication shows symptoms similar to those of tricyclic antidepressant (TCA) intoxication.</p><p><strong>Case presentation: </strong>We examined a case of diphenhydramine intoxication showing cerebellar ataxia and prolonged false positive results for TCA in the urine. The urine TCA test showed persistently positive results even 60 h after the patient's initial drug screening. We observed negative conversion 90 h after the initial drug screening.</p><p><strong>Discussion: </strong>Considering the similarities of clinical symptoms between diphenhydramine and TCA intoxication, emergency physicians should consider the possibility of cross-reactivity in the diagnosis of a patient with unknown acute drug intoxication showing positive results of TCA immunochromatographic assay in the urine.</p><p><strong>Conclusion: </strong>The present case suggests that diphenhydramine overdose may cause cerebellar ataxia and show prolonged cross-reactivity as TCA in the urine.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"17 1","pages":"39-42"},"PeriodicalIF":0.6,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10423011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10296078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence and associated factors of congenital syphilis at a tertiary care center in Thailand.","authors":"Pimchanok Kulsirichawaroj,&nbsp;Dissajee Lumbiganon","doi":"10.2478/abm-2023-0039","DOIUrl":"https://doi.org/10.2478/abm-2023-0039","url":null,"abstract":"<p><strong>Background: </strong>The incidence of congenital syphilis is increasing worldwide, in parallel with the increase of syphilis in the general population.</p><p><strong>Objectives: </strong>This study aimed to determine the incidence and risk factors for congenital syphilis at a referral tertiary care center in Bangkok, Thailand.</p><p><strong>Methods: </strong>This is a case-control study using the hospital medical records of neonates born at our hospital, whose mothers had confirmed syphilis during pregnancy or at delivery between 2011 and 2018. Maternal and neonatal data were reviewed. Neonates were categorized into congenital syphilis according to CDC surveillance case definition for congenital syphilis 2015 and the American Academy of Pediatrics Congenital Syphilis 2018: confirmed and probable were assigned to the case group, while possible and less likely congenital syphilis were used as the control group. Factors associated with congenital syphilis were analyzed using univariable and multivariable analysis.</p><p><strong>Results: </strong>Among 19,558 live births, there were 126 neonates born to mothers with syphilis. Almost 40% of mothers were teenage mothers and 48.4% had inadequate or no syphilis treatment. Forty neonates met the criteria of congenital syphilis giving the incidence of 204 per 100,000 live births (95% confidence interval [CI]: 146-278). Factors associated with congenital syphilis were inadequate treatment of maternal syphilis and preterm birth (adjusted odd ratio [aOR]: 2.69, 95% CI: 1.02-7.11, <i>P</i> = 0.046 and aOR: 2.91; 95% CI: 1.01-8.39, <i>P</i> = 0.049, respectively).</p><p><strong>Conclusions: </strong>The incidence of congenital syphilis in our institution was high. Factors associated with congenital syphilis were inadequate treatment of maternal syphilis and preterm birth. Improvement of prenatal care should be emphasized.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"17 1","pages":"13-21"},"PeriodicalIF":0.6,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9998923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk factors of transient tachypnea of the newborn developing into pulmonary hypertension of the newborn: a case-control study.","authors":"Gunlawadee Maneenil,&nbsp;Waricha Janjindamai,&nbsp;Supaporn Dissaneevate,&nbsp;Anucha Thatrimontrichai","doi":"10.2478/abm-2022-0034","DOIUrl":"https://doi.org/10.2478/abm-2022-0034","url":null,"abstract":"<p><strong>Background: </strong>Transient tachypnea of the newborn (TTN) is the consequence of delayed resorption of lung fluid. When TTN develops, the infant may develop severe hypoxemia and progress to persistent pulmonary hypertension of the newborn (PPHN).</p><p><strong>Objectives: </strong>To examine factors associated with the development of PPHN in TTN infants.</p><p><strong>Methods: </strong>This retrospective study comprised 23 infants in whom a diagnosis of TTN with PPHN (TTN-PPHN) was confirmed and 59 infants with severe TTN without PPHN who required mechanical ventilation between 2009 and 2018 at Songklanagarind Hospital, Thailand. Logistic regression was used to assess factors associated with TTN and PPHN.</p><p><strong>Results: </strong>The factors identified by univariate analysis that were associated with development of PPHN were oxygen saturation (SpO₂) <90% and respiratory rate (RR) ≥70 breaths/min at the time of admission, mean airway pressure (MAP) ≥8 cmH₂O, oxygen index (OI) ≥10, partial pressure of oxygen (PaO₂) ≤60, partial pressure of carbon dioxide (PCO₂) ≥45 mmHg, and infants who did not receive positive pressure ventilation (PPV). In multivariate analyses, RR ≥70 breaths/min (adjusted odds ratio [aOR] 9.96, 95% confidence interval [CI] 2.1-47.29, <i>P</i> < 0.001) and OI ≥10 (aOR 29.22, 95% CI 4.46-191.23, <i>P</i> < 0.001) remained statistically significantly associated with PPHN.</p><p><strong>Conclusions: </strong>High RR and high OI were factors associated with PPHN in TTN infants.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"16 6","pages":"310-315"},"PeriodicalIF":0.6,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10392143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10316318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Keratoconus in Thai population - a cross-sectional hospital-based study.","authors":"Yonrawee Piyacomn,&nbsp;Ngamjit Kasetsuwan,&nbsp;Vilavun Puangsricharern,&nbsp;Usanee Reinprayoon,&nbsp;Vannarut Satitpitakul,&nbsp;Patchima Chantaren","doi":"10.1515/abm-2022-0035","DOIUrl":"https://doi.org/10.1515/abm-2022-0035","url":null,"abstract":"<p><strong>Background: </strong>Studies in the epidemiology of keratoconus are limited in Southeast Asia. A study on the prevalence and characteristics of keratoconus in the Thai population could give a general idea of its impact.</p><p><strong>Objectives: </strong>To study keratoconus prevalence in patients seeking refractive surgery and analyze the characteristics of keratoconus.</p><p><strong>Methods: </strong>Medical records from April 2015 to August 2018 were retrospectively reviewed. Keratoconus and keratoconus suspect prevalence in patients seeking laser vision correction were calculated. The characteristics of keratoconus patients were reviewed. The Amsler-Krumeich classification was used to determine the stages. Topographically, the types of cones were categorized into oval, nipple, pellucid marginal degeneration (PMD)-like, and astigmatic types.</p><p><strong>Results: </strong>Keratoconus and keratoconus suspect prevalence were 1.66% and 0.68%, respectively. Out of the affected patients, 73.8% were male. The mean age at diagnosis was 25.25 ± 8.35 years. The presenting symptoms were blurred vision (87%) and itching (47%). Stage 1 was predominant, found in 39% of patients (followed by stages 2, 4, and 3, respectively). Ocular findings comprised the Munson sign (14.63%), the Rizutti sign (6.94%), Fleischer ring (28.14%), Vogt striae (24.95%), corneal scar (8.63%), prominent corneal nerve (2.81%), and corneal staining (7.69%). Mean uncorrected visual acuity (logarithm of the minimum angle of resolution [logMAR]) was 0.88 ± 0.64. Mean corrected visual acuity (logMAR) was 0.40 ± 0.49. Mean Q-value was -0.92 ± 0.63. The thinnest pachymetry was 459.39 ± 56.96 microns. The mean keratometry was 49.7 ± 6.64 diopters. Topographically, the types of cones were oval (57%), astigmatic (33%), PMD-like (5%), and nipple type (4%).</p><p><strong>Conclusions: </strong>Keratoconus prevalence among Thai patients seeking refractive surgery was 1.66%. Most patients were male and presented with the disease at a mild bilateral stage in their second decade of life.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"16 6","pages":"316-321"},"PeriodicalIF":0.6,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10392145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9960144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report.","authors":"Nasim Rahmani,&nbsp;Mohammad Ahmadvand,&nbsp;Golnaz Khakpour","doi":"10.2478/abm-2022-0036","DOIUrl":"https://doi.org/10.2478/abm-2022-0036","url":null,"abstract":"<p><p>Van Maldergem syndrome (VMLDS) is a recessive disease which affects multiple organs including the face, ear, and limb extremities. It can be caused by pathogenic variants in either the gene DCHS1 or FAT4. Diagnosis of VMLDS is complicated, especially regarding its similarity of symptoms to Hennekam syndrome, another disorder caused by FAT4 variants. Reported patients are two infantile siblings with multiple congenital anomalies, who deceased without clinical diagnosis. Whole exome sequencing was exploited for expanded carrier screening (ECS) of their parents, which revealed a novel splicing variant in the gene FAT4, NM_024582.6: c.7018+1G>A. In silico analysis of the variant indicates loss of canonical donor splice site of intron 6. This variant is classified as pathogenic based on ACMG criteria. Reverse phenotyping of patients resulted in likely diagnosis of VMLDS2. This study reaffirms the possibility of using ECS, leading to the genetic diagnosis of a rare disease with complicated clinical features.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"16 6","pages":"322-328"},"PeriodicalIF":0.6,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10392142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10013538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Central resources of variant discovery and annotation and its role in precision medicine.","authors":"Hashim Halim-Fikri,&nbsp;Sharifah-Nany Rahayu-Karmilla Syed-Hassan,&nbsp;Wan-Khairunnisa Wan-Juhari,&nbsp;Mat Ghani Siti Nor Assyuhada,&nbsp;Yetti Hernaningsih,&nbsp;Narazah Mohd Yusoff,&nbsp;Amir Feisal Merican,&nbsp;Bin Alwi Zilfalil","doi":"10.2478/abm-2022-0032","DOIUrl":"https://doi.org/10.2478/abm-2022-0032","url":null,"abstract":"<p><p>Rapid technological advancement in high-throughput genomics, microarray, and deep sequencing technologies has accelerated the possibility of more complex precision medicine research using large amounts of heterogeneous health-related data from patients, including genomic variants. Genomic variants can be identified and annotated based on the reference human genome either within the sequence as a whole or in a putative functional genomic element. The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) mutually created standards and guidelines for the appraisal of proof to expand consistency and straightforwardness in clinical variation interpretations. Various efforts toward precision medicine have been facilitated by many national and international public databases that classify and annotate genomic variation. In the present study, several resources are highlighted with recognition and data spreading of clinically important genetic variations.</p>","PeriodicalId":8501,"journal":{"name":"Asian Biomedicine","volume":"16 6","pages":"285-298"},"PeriodicalIF":0.6,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10392146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10316317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}